chr1-23559300-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002167.5(ID3):āc.127G>Cā(p.Asp43His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D43N) has been classified as Uncertain significance.
Frequency
Consequence
NM_002167.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ID3 | ENST00000374561.6 | c.127G>C | p.Asp43His | missense_variant | Exon 1 of 3 | 1 | NM_002167.5 | ENSP00000363689.5 | ||
ID3 | ENST00000486541.1 | n.144G>C | non_coding_transcript_exon_variant | Exon 1 of 2 | 1 | |||||
ID3 | ENST00000463312.1 | n.-225G>C | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461676Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727148
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.